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排序方式: 共有732条查询结果,搜索用时 15 毫秒
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John Timothy Wright Mary Fete Holm Schneider Madelaine Zinser Maranke I. Koster Angus J. Clarke Smail Hadj‐Rabia Gianluca Tadini Nina Pagnan Atila F. Visinoni Birgitta Bergendal Becky Abbott Timothy Fete Clark Stanford Clayton Butcher Rena N. D'Souza Virginia P. Sybert Maria I. Morasso 《American journal of medical genetics. Part A》2019,179(3):442-447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). 相似文献
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Rita Shelby Afif N. Kulaylat Anthony Villella Marc P. Michalsky Karen A. Diefenbach Jennifer H. Aldrink 《Journal of pediatric surgery》2021,56(5):1047-1050
IntroductionLaparoscopic splenectomy (LS) is the standard of care for hematologic disorders requiring splenectomy. Less is known about the outcomes following robotic-assisted splenectomy (RS) for this indication. Our aim was to describe outcomes of RS to LS in pediatric patients with hematologic disorders in our institution.MethodsA single institution retrospective review was performed of pediatric patients undergoing LS vs. RS from 2014 to 2019. Patient demographics, diagnosis, spleen size, hospital length of stay (LOS), operative time, post-operative opioid use, and hospital charges were evaluated. Standard univariate analyses were performed.ResultsTwenty-four patients were included in the study (14 LS, 10 RS). The mean spleen size at the time of surgery was larger in the RS group compared to LS (14.5 cm vs. 12.2 cm, p = 0.03). Operative time between the two cohorts was comparable (RS 140.5 vs LS 154.9 min). Median LOS for RS was shorter than LS (2.1 vs. 3.2 days, p = 0.02). Cumulative postoperative opioid analgesic requirements were not significantly different between the groups (17.4 mg vs. 30.5 mg). The median hospital charges, including the surgical procedure and hospital stay were higher in the RS group ($44,724 RS vs $30,255 LS, p = 0.01).ConclusionRobotic splenectomy is a safe and feasible option for pediatric patients with hematologic disorders, and was associated with decreased LOS but higher charges compared to laparoscopic splenectomy. Further studies are required to delineate the optimal use and potential benefits of robot-assisted surgical techniques in children.Level of EvidenceII. 相似文献
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H E Veeger M Hadj Yahmed L H van der Woude P Charpentier 《Medicine and science in sports and exercise》1991,23(10):1201-1209
To extend the existing data base on the cardiovascular capacity of wheelchair-dependent athletes, a maximum wheelchair exercise test was conducted by 48 athletes (8 females and 40 males) on a motor driven treadmill. Athletes were selected on availability from the representatives of eight different disciplines. For 36 subjects maximal external power was calculated on the basis of a separate drag test. Maximal oxygen uptake (VO2max) for the male population was 2.23 l.min-1 (32.9 ml.kg-1.min-1). Subjects were divided into functional categories according to the International Stoke Mandeville Classification, with one nonambulatory, nonparaplegic group classified as "LA." The LA group displayed the highest values while the class IC tetraplegic showed the lowest performance level. Classified over sports disciplines, male track and field representatives showed the highest VO2max (2.86 l.min-1, 44.9 ml.kg-1.min-1) and target shooting athletes the lowest (1.32 l.min-1, 16.3 ml.kg-2.min-1). Maximal power output was on average 81.1 W for the male population and varied from 65.8 W for class II athletes to 92.2 W for class LA. Between sports values ranged from 96.8 W for basketball players to 48.2 W for the archery representative. These data are useful for setting standards for maximally attainable performance levels in relation to sport, functional classification, or sex and underline the capability of the wheelchair-dependent to improve cardiovascular fitness. 相似文献
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L. Julio Reinstein Afif Ahmed Enid Gilbert-Barness Herbert H. Pomerance 《Fetal and pediatric pathology》2003,22(6):471-480
A clinicopathologic case is presented. The patient was a 12-year-old white girl with a history of fatigue and dizziness, occasional nausea and vomiting, and anemia, who showed abdominal distention, especially in the epigastrium. An epigastric mass was palpable. Gastroscopy was done, and surgery followed. Pertinent laboratory findings are presented, and clinical discussion follows. The pathology is then presented and discussed. 相似文献